Canonical Allele Identifier: CA350866112

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227254654A>G , CM000664.2:g.227254654A>G	GRCh38
NC_000002.11:g.228119370A>G , CM000664.1:g.228119370A>G	GRCh37
NC_000002.10:g.227827614A>G	NCBI36
NG_011591.1:g.95090A>G , LRG_230:g.95090A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.829-2A>G (COL4A3) MANE Select	NP_000082.2:n.829-2A>G
ENST00000396578.8:c.829-2A>G (COL4A3) MANE Select	ENSP00000379823.3:n.829-2A>G
NM_000091.4:c.829-2A>G , LRG_230t1:c.829-2A>G (COL4A3)	NP_000082.2:n.829-2A>G
NR_102371.1:n.1592+4524T>C (MFF-DT)
ENST00000396578.7:c.829-2A>G (COL4A3)	ENSP00000379823.3:n.829-2A>G
XM_005246276.2:c.829-2A>G (COL4A3)	XP_005246333.1:n.829-2A>G
XM_005246277.2:c.829-2A>G (COL4A3)	XP_005246334.1:n.829-2A>G
XM_005246277.3:c.829-2A>G (COL4A3)	XP_005246334.1:n.829-2A>G
XM_005246280.2:c.829-2A>G (COL4A3)	XP_005246337.1:n.829-2A>G
XM_005246280.3:c.829-2A>G (COL4A3)	XP_005246337.1:n.829-2A>G
XM_006712245.2:c.829-2A>G (COL4A3)	XP_006712308.1:n.829-2A>G
XM_006712245.3:c.829-2A>G (COL4A3)	XP_006712308.1:n.829-2A>G
XM_011510555.1:c.829-2A>G (COL4A3)	XP_011508857.1:n.829-2A>G
XM_011510556.1:c.-407-2A>G (COL4A3)	XP_011508858.1:n.-407-2A>G
XM_011510556.2:c.-407-2A>G (COL4A3)	XP_011508858.1:n.-407-2A>G
XM_017003295.1:c.829-2A>G (COL4A3)	XP_016858784.1:n.829-2A>G
XR_001738601.1:n.967-2A>G (COL4A3)
XR_241280.2:n.967-2A>G (COL4A3)
XR_241280.3:n.967-2A>G (COL4A3)